The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. (Q53160146)

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31 March 2020

title

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants (English)

1 reference

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Tatton-Brown–Rahman syndrome

31 March 2020

main subject

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author

Diana Baralle

7

1 reference

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31 March 2020

Nazneen Rahman

51

1 reference

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31 March 2020

Anna Zachariou

2

1 reference

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31 March 2020

Chey Loveday

3

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Daniela Barge-Schaapveld

8

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Moira Blyth

9

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Mieke C Bouma

10

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Christine Fauth

15

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Matthew Hunter

20

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Ruth Newbury-Ecob

33

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Carlos E Prada

36

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Karen Temple

42

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Peter Turnpenny

43

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Lionel Val Maldergem

44

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4

Anthony Renwick

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31 March 2020

22

Sarina G Kant

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author name string

Katrina Tatton-Brown

1

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Lise Aksglaede

6

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Jeroen Breckpot

11

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Beau Crabb

12

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Tabib Dabir

13

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Valerie Cormier-Daire

14

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Richard Fisher

16

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Blanca Gener

17

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David Goudie

18

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Tessa Homfray

19

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Agnete Jorgensen

21

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Cathy Kirally-Borri

23

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David Koolen

24

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Ajith Kumar

25

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Anatalia Labilloy

26

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Melissa Lees

27

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Carlo Marcelis

28

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Catherine Mercer

29

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Cyril Mignot

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Kathryn Miller

31

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Katherine Neas

32

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Renata Posmyk

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Keri Ramsey

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Angelo Selicorni

39

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Deborah Shears

40

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Mohnish Suri

41

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Vinod Varghese

45

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Naomi Yachelevich

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Daniela T Pilz

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Hermine E Veenstra-Knol

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Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study

49

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Deciphering Developmental Disorders (DDD) Study

50

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publication date

23 April 2018

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published in

Wellcome Open Research

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volume

3

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page(s)

46

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Creative Commons Attribution 4.0 International

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copyright license

start time

23 April 2018

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April 2022 Public Data File from Crossref

copyright status

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cites work

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

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The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

30 June 2018

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Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

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Tatton-Brown-Rahman syndrome due to 2p23 microdeletion

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Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome

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